NEPHRONOPHTHISIS

·         AR

·         Most common genetic cause of ESRD in childhood & adolescence

·         Types-

1.       Juvenile/adolescent form

§  Most common form

§  Kidneys- shrunken & fibrotic with microscopic medullary cysts

§  Symptoms appear >1 yr

§  ESRD (End Stage Renal Disease) by age 13 yr (juvenile) & age 19 yr (adolescent)

§  USG- small hyperechoic kidneys

§  Extra-renal manifestations-

·         Retinitis pigmentosa (Senior-Loken syndrome)- most common {images}

·         Amaurosis (blindness)

·         Oculomotor apraxia

·         Cerebellar ataxia

·         Mental retardation

·         Hepatic fibrosis

·         Ventricular septal defect

2.       Infantile form

§  Kidneys- large with prominent cysts

§  Symptoms appear < 1 yr

§  ESRD by age 5 yr

§  USG- large kidneys with cysts

§  Extra-renal manifestation- Situs inversus

·         Diagnosis- USG